![]() Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Molecular genetic testing approaches can include a combination of gene-targeted testing ( multigene panel) and comprehensive genomic testing ( exome sequencing, genome sequencing) depending on the phenotype. (2) Identification of a heterozygous variant of uncertain significance in any of the genes in Table 1 does not establish or rule out the diagnosis. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms " pathogenic variant" and " likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making. A pathogenic variant is identified in 19% of individuals with a family history of SHE and 7% of individuals with a negative family history. A molecular diagnosis of ADSHE is established in a proband with suggestive findings and a heterozygous pathogenic (or likely pathogenic) variant in in one of the genes listed in Table 1. Transitioning to a lower-risk medication prior to pregnancy may be possible.Ī clinical diagnosis of ADSHE is established in a proband based on the presence of clinical features, EEG findings and family history detailed in Suggestive Findings. Pregnancy management: Discussion of the risks and benefits of using a given ASM during pregnancy should ideally take place prior to conception. Surveillance: Reevaluation of EEGs at regular intervals to monitor disease progression, as well as assessment for changes in seizure semiology, changes in tone, and movement disorders monitoring of developmental progress and educational needs.Įvaluation of relatives at risk: A medical history from relatives at risk can identify those with ADSHE so that treatment can be initiated promptly. Adjunctive fenofibrate therapy or vagal nerve stimulation may be considered in individuals resistant to standard ASM. Resistance to ASM is present in about 30% of affected individuals and typically requires a trial of all appropriate ASM. KCNT1-related ADSHE is difficult to treat but may be treatable using quinidine based on limited data. Individuals with ADSHE associated with the CHRNA4 pathogenic variant p.Ser284Leu are more responsive to zonisamide than carbamazepine. ![]() Carbamazepine is associated with remission in about 70% of individuals, often in relatively low doses. If you use this eHealthMe study on publication, please acknowledge it with a citation: study title, URL, accessed date.Treatment of manifestations: Many anti-seizure medications (ASM) may be effective. The use of the eHealthMe site and its content is at your own risk. Every effort has been made to ensure that all information is accurate, up-to-date, and complete, but no guarantee is made to that effect. Different individuals may respond to medication in different ways. Our phase IV clinical studies alone cannot establish cause-effect relationship. ![]() WARNING: Please DO NOT STOP MEDICATIONS without first consulting a physician since doing so could be hazardous to your health.ĭISCLAIMER: All material available on is for informational purposes only, and is not a substitute for medical advice, diagnosis, or treatment provided by a qualified healthcare provider. Our analysis results are available to researchers, health care professionals, patients ( testimonials), and software developers ( open API). Results of our real-world drug study have been referenced on 600+ medical publications, including The Lancet, Mayo Clinic Proceedings, and Nature. We study millions of patients and 5,000 more each day. With medical big data and proven AI algorithms, eHealthMe provides a platform for everyone to run phase IV clinical trials.
0 Comments
Leave a Reply. |